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Article

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.

World journal of pediatrics : WJP - 1 Aug 2014

Lu De-Yun, Ye Jun, Han Lian-Shu, Qiu Wen-Juan, Zhang Hui-Wen, Zhou Jian-De, Bao Pei-Zhong, Zhang Ya-Fen, Gu Xue-Fan

Abstract excerpt

BACKGROUND: This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations on dihydropteridine reductase (DHPR) structure/function, to discuss the potential genotypephenotype correlation, and to evaluate the clinical outcome of Chinese patients after treatment. METHODS: Nine DHPR-deficient patients were enrolled in this study and seven of them underwent neonatal...

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Source

Identifiers

PMID: 25124972
DOI: 10.1007/s12519-014-0496-7

Genes

QDPR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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